Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene Jervell and L...
Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene
About this item
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Author / Creator
Publisher
Hacettepe University Institute of Child Health
Journal title
Language
English
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Publication information
Publisher
Hacettepe University Institute of Child Health
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Scope and Contents
Contents
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive cardioauditory ion channel disorder characterized by congenital bilateral sensorineural deafness and long QT interval. JLNS is a ventricular repolarization abnormality and is caused by mutations in the KCNQ1 or KCNE1 gene. It has a high mortality rate in childhood due to ventricula...
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Full title
Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_60c1223cb66f45b6904cca2eb6787fd8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_60c1223cb66f45b6904cca2eb6787fd8
Other Identifiers
ISSN
0041-4301
E-ISSN
2791-6421
